{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T12:44:47Z","timestamp":1793450687369,"version":"4.5.0"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,17]],"date-time":"2023-12-17T00:00:00Z","timestamp":1702771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1016\/j.ejmg.2023.104904","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T22:01:41Z","timestamp":1703196101000},"page":"104904","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature"],"prefix":"10.1016","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-341X","authenticated-orcid":false,"given":"Alice","family":"Moroni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelise","family":"Brizola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Di Cecco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morena","family":"Tremosini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Sergiampietri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Tappino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Piana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104904_bib1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-9-60","article-title":"Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features","volume":"9","author":"Arman","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2023.104904_bib2","article-title":"Interventions for managing medication-related osteonecrosis of the jaw","volume":"10","author":"Beth-Tasdogan","year":"2017","journal-title":"Cochrane Database Syst. Rev."},{"key":"10.1016\/j.ejmg.2023.104904_bib3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2023.104904_bib4","doi-asserted-by":"crossref","first-page":"e725","DOI":"10.4317\/jced.56307","article-title":"The impact of medication-related osteonecrosis of the jaws on the quality of life in cancer patients","volume":"12","author":"Caminha","year":"2020","journal-title":"J Clin Exp Dent"},{"issue":"5","key":"10.1016\/j.ejmg.2023.104904_bib5","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s11914-018-0474-4","article-title":"Current understanding of the pathophysiology of osteonecrosis of the jaw","volume":"16","author":"Chang","year":"2018","journal-title":"Curr. Osteoporos. Rep."},{"key":"10.1016\/j.ejmg.2023.104904_bib6","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.bjorl.2020.12.009","article-title":"Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review","volume":"87","author":"de Fran\u00e7a","year":"2021","journal-title":"Braz J Otorhinolaryngol"},{"key":"10.1016\/j.ejmg.2023.104904_bib7","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104135","article-title":"Clinical and genetic evaluation of Danish patients with pycnodysostosis","volume":"64","author":"Doherty","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104904_bib8","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9490","article-title":"Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online","volume":"28","author":"Donnarumma","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2023.104904_bib9","doi-asserted-by":"crossref","first-page":"e127","DOI":"10.1016\/j.oooo.2021.05.001","article-title":"Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management","volume":"132","author":"El-Mahallawy","year":"2021","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"10.1016\/j.ejmg.2023.104904_bib10","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0168-8510(90)90421-9","article-title":"EuroQol - a new facility for the measurement of health-related quality of life","volume":"16","year":"1990","journal-title":"Health Pol."},{"issue":"1","key":"10.1016\/j.ejmg.2023.104904_bib11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.4081\/reumatismo.2017.983","article-title":"Drug-induced osteonecrosis of the jaw: the state of the art","volume":"69","author":"Fassio","year":"2017","journal-title":"Reumatismo"},{"key":"10.1016\/j.ejmg.2023.104904_bib12","doi-asserted-by":"crossref","DOI":"10.1016\/j.socscimed.2021.114519","article-title":"An EQ-5D-5L value set for Italy using videoconferencing interviews and feasibility of a new mode of administration","volume":"292","author":"Finch","year":"2022","journal-title":"Soc. Sci. Med."},{"key":"10.1016\/j.ejmg.2023.104904_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116674","article-title":"Pycnodysostosis in children and adults","volume":"169","author":"Hald","year":"2023","journal-title":"Bone"},{"issue":"10","key":"10.1016\/j.ejmg.2023.104904_bib14","doi-asserted-by":"crossref","first-page":"4277","DOI":"10.1177\/0300060518788987","article-title":"Pathogenesis of medication-related osteonecrosis of the jaw: a comparative study of in vivo and in vitro trials","volume":"46","author":"Holtmann","year":"2018","journal-title":"J. Int. Med. Res."},{"key":"10.1016\/j.ejmg.2023.104904_bib15","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ajmg.a.61393","article-title":"Sleep-disordered breathing in children with pycnodysostosis","volume":"182","author":"Khirani","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104904_bib16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1097\/MCD.0000000000000128","article-title":"Pycnodysostosis: mutation spectrum in five unrelated Indian children","volume":"25","author":"Mandal","year":"2016","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2023.104904_bib17","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1904","article-title":"Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene","volume":"10","author":"Markova","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.ejmg.2023.104904_bib18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s40258-022-00772-7","article-title":"EQ-5D-5L population norms for Italy","volume":"21","author":"Meregaglia","year":"2023","journal-title":"Appl. Health Econ. Health Pol."},{"key":"10.1016\/j.ejmg.2023.104904_bib19","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.bone.2013.11.014","article-title":"Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis","volume":"59","author":"Pangrazio","year":"2014","journal-title":"Bone"},{"issue":"5","key":"10.1016\/j.ejmg.2023.104904_bib20","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.joms.2022.02.008","article-title":"American association of oral and maxillofacial Surgeons' position paper on medication-related osteonecrosis of the jaws-2022 update","volume":"80","author":"Ruggiero","year":"2022","journal-title":"J. Oral Maxillofac. Surg."},{"key":"10.1016\/j.ejmg.2023.104904_bib21","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104235","article-title":"Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis","volume":"64","author":"Sait","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104904_bib22","doi-asserted-by":"crossref","DOI":"10.3390\/genes12101552","article-title":"Genetic and molecular evaluation: reporting three novel mutations and creating awareness of pycnodysostosis disease","volume":"12","author":"Sayed Amr","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.ejmg.2023.104904_bib23","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1055\/s-0037-1604100","article-title":"Pycnodysostosis: novel variants in CTSK and occurrence of giant cell tumor","volume":"7","author":"Shambhavi","year":"2018","journal-title":"J. Pediatr. Genet."},{"key":"10.1016\/j.ejmg.2023.104904_bib24","first-page":"3915","article-title":"Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings","volume":"7","author":"Valdes-Flores","year":"2014","journal-title":"Int. J. Clin. Exp. Med."},{"key":"10.1016\/j.ejmg.2023.104904_bib25","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-6-20","article-title":"Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011","volume":"6","author":"Xue","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2023.104904_bib26","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-6-20","article-title":"Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011","volume":"6","author":"Xue","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ejmg.2023.104904_bib27","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s00774-016-0810-7","article-title":"Antiresorptive agent-related osteonecrosis of the jaw: position paper 2017 of the Japanese allied committee on osteonecrosis of the jaw","volume":"35","author":"Yoneda","year":"2017","journal-title":"J. Bone Miner. Metabol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223002100?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223002100?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:46Z","timestamp":1761710086000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223002100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":27,"alternative-id":["S1769721223002100"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104904","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104904","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104904"}}